Foss Kimberly S, O'Daniel Julianne M, Berg Jonathan S, Powell Sabrina N, Cadigan Rosemary Jean, Kuczynski Kristine J, Milko Laura V, Saylor Katherine W, Roberts Megan, Weck Karen, Henderson Gail E
Department of Genetics, University of North Carolina, Chapel Hill, NC 27599, USA.
Department of Social Medicine, University of North Carolina, Chapel Hill, NC 27599, USA.
J Pers Med. 2022 Apr 26;12(5):692. doi: 10.3390/jpm12050692.
Advances in clinical genomic sequencing capabilities, including reduced costs and knowledge gains, have bolstered the consideration of genomic screening in healthy adult populations. Yet, little is known about the existing landscape of genomic screening programs in the United States. It can be difficult to find information on current implementation efforts and best practices, particularly in light of critical questions about equity, cost, and benefit.
In 2020, we searched publicly available information on the Internet and the scientific literature to identify programs and collect information, including: setting, program funding, targeted population, test offered, and patient cost. Program representatives were contacted throughout 2020 and 2021 to clarify, update, and supplement the publicly available information.
Twelve programs were identified. Information was available on key program features, such as setting, genes tested, and target populations. Data on costs, outcomes, or long-term sustainability plans were not always available. Most programs offered testing at no or significantly reduced cost due to generous pilot funding, although the sustainability of these programs remains unknown. Gene testing lists were diverse, ranging from 11 genes (CDC tier 1 genes) to 59 genes (ACMG secondary findings list v.2) to broad exome and genome sequencing. This diversity presents challenges for harmonized data collection and assessment of program outcomes.
Early programs are exploring the logistics and utility of population genomic screening in various settings. Coordinated efforts are needed to take advantage of data collected about uptake, infrastructure, and intervention outcomes to inform future research, evaluation, and program development.
临床基因组测序能力的进步，包括成本降低和知识增长，推动了在健康成年人群中进行基因组筛查的考虑。然而，对于美国基因组筛查项目的现有情况知之甚少。很难找到关于当前实施工作和最佳实践的信息，特别是考虑到有关公平性、成本和效益的关键问题。
2020年，我们在互联网和科学文献中搜索公开可用信息，以识别项目并收集信息，包括：设置、项目资金、目标人群、提供的检测以及患者成本。在2020年和2021年期间与项目代表联系，以澄清、更新和补充公开可用信息。
识别出12个项目。可获得有关关键项目特征的信息，如设置、检测的基因和目标人群。并非总能获得成本、结果或长期可持续性计划的数据。由于有大量的试点资金，大多数项目提供免费或大幅降低成本的检测，尽管这些项目的可持续性仍然未知。基因检测列表多种多样，从11个基因（疾病控制与预防中心一级基因）到59个基因（美国医学遗传学与基因组学学会二级发现列表第2版），再到广泛的外显子组和基因组测序。这种多样性给统一数据收集和项目结果评估带来了挑战。
早期项目正在探索在各种环境中进行人群基因组筛查的后勤工作和实用性。需要做出协调一致的努力，以利用收集到的关于接受情况、基础设施和干预结果的数据，为未来的研究、评估和项目开发提供信息。
